Variant report

Variant	esv20690
Chromosome Location	chr11:8088194-8089132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8084754..8086469-chr11:8088768..8090631,2	K562	blood:
2	chr11:8085796..8088311-chr11:8090818..8094631,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3F-1	chr11:8088970-8089026	ENSG00000248332

Variant related genes	Relation type
GNAI2	miRNA target sites

Extended variants
information (count: 37 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548617096	chr11:8088198-8088199	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541894855	chr11:8088218-8088219	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs561745680	chr11:8088253-8088254	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs184797406	chr11:8088287-8088288	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs551162432	chr11:8088288-8088289	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73396771	chr11:8088294-8088295	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530973455	chr11:8088346-8088347	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs533417894	chr11:8088354-8088355	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs573661545	chr11:8088373-8088374	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs547262294	chr11:8088400-8088401	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs567098050	chr11:8088417-8088418	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs550679434	chr11:8088447-8088448	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs11041729	chr11:8088511-8088512	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs555372732	chr11:8088524-8088525	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs35326533	chr11:8088576-8088577	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537969358	chr11:8088582-8088583	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs36113068	chr11:8088600-8088601	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576979126	chr11:8088603-8088604	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs139059990	chr11:8088618-8088619	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs553231232	chr11:8088632-8088633	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs567026059	chr11:8088673-8088674	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs7932687	chr11:8088757-8088758	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs79195348	chr11:8088769-8088770	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs561683182	chr11:8088771-8088772	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs149876656	chr11:8088777-8088778	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs544304167	chr11:8088782-8088783	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs564066838	chr11:8088788-8088789	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147963937	chr11:8088790-8088791	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs546904260	chr11:8088867-8088868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs560820521	chr11:8088907-8088908	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs529556924	chr11:8088997-8088998	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
32	rs548936033	chr11:8089028-8089029	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs386750461	chr11:8089029-8089030	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs7112750	chr11:8089031-8089032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116154015	chr11:8089109-8089110	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs7113729	chr11:8089121-8089122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs539598629	chr11:8089122-8089123	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
3	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus
4	chr11:8080600-8091600	Enhancers	Right Ventricle	heart
5	chr11:8081800-8090000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:8082400-8089800	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:8082800-8093600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:8083000-8089600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:8083000-8089800	Weak transcription	HSMM	muscle
10	chr11:8083000-8090600	Enhancers	Left Ventricle	heart
11	chr11:8083200-8089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:8083400-8089800	Weak transcription	Colonic Mucosa	Colon
13	chr11:8084800-8089800	Weak transcription	Fetal Intestine Large	intestine
14	chr11:8084800-8089800	Weak transcription	Lung	lung
15	chr11:8084800-8089800	Weak transcription	Psoas Muscle	Psoas
16	chr11:8084800-8090000	Weak transcription	Gastric	stomach
17	chr11:8085200-8089600	Weak transcription	HSMMtube	muscle
18	chr11:8085200-8089800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:8085200-8090200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:8085200-8090600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:8085600-8089600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:8085800-8089800	Weak transcription	NHDF-Ad	bronchial
23	chr11:8085800-8093800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:8086000-8089800	Weak transcription	Ovary	ovary
25	chr11:8086200-8090000	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:8086600-8088600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:8086600-8089400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:8086600-8090400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:8087200-8092000	Enhancers	Fetal Heart	heart
30	chr11:8087400-8088200	Enhancers	Osteobl	bone
31	chr11:8087400-8088600	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:8087400-8090400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:8087600-8089000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr11:8087600-8090000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr11:8087800-8088400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:8087800-8088400	Enhancers	Rectal Smooth Muscle	rectum
37	chr11:8087800-8089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:8087800-8091600	Enhancers	Right Atrium	heart
39	chr11:8088000-8088200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:8088000-8088800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:8088000-8088800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:8088200-8088800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:8088200-8088800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:8088200-8089600	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr11:8088200-8089800	Weak transcription	Osteobl	bone
46	chr11:8088200-8090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:8088400-8088600	Enhancers	Hela-S3	cervix
48	chr11:8088400-8088800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr11:8088400-8090000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:8088400-8090400	Weak transcription	Rectal Smooth Muscle	rectum

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